{Reference Type}: Journal Article
{Title}: Hematopoietic cell transplantation for telomere biology diseases: A retrospective single-center cohort study.
{Author}: Nichele S;Bonfim C;Junior LGD;Loth G;Kuwahara C;Trennephol J;Funke VAM;Marinho DE;Koliski A;Rodrigues AM;Mousquer RTG;Fasth A;Lima ACM;Calado RT;Pasquini R;
{Journal}: Eur J Haematol
{Volume}: 111
{Issue}: 3
{Year}: 2023 Sep 1
{Factor}: 3.674
{DOI}: 10.1111/ejh.14023
{Abstract}: <B>BACKGROUND: </B>Telomere biology diseases (TBD) result from defective telomere maintenance, leading to bone marrow failure. The only curative treatment for aplastic anemia related to TBD is a hematopoietic cell transplant (HCT). Although reduced-intensity conditioning (RIC) regimens decrease transplant-related mortality, non-hematological phenotypes represent a major challenge and are associated with poor long-term follow-up outcomes.<BR><B>OBJECTIVE: </B>To describe the outcome of TBD patients transplanted for marrow failure.<BR><B>METHODS: </B>This is a retrospective, single-center study describing the outcomes of 32 consecutive transplants on 29 patients between 1993 and 2019.<BR><B>RESULTS: </B>The median age at transplantation was 14 years (range, 3-30 years). Most patients received a RIC regimen (n = 28) and bone marrow (BM) from an unrelated donor (n = 16). Four patients received a haploidentical transplant. Chimerism was available for 27 patients with a median time to neutrophil recovery of 20 days (13-36 days). Primary graft failure occurred in one patient, whereas second graft failure occurred in two. Acute GVHD grade II-IV and moderate to severe chronic GVHD occurred in 22% of patients at risk. Fourteen patients were alive after HCT at the last follow-up (median, 6 years; 1.4-19 years). The 5-year overall survival was better after matched sibling donor (MSD) transplantation compared to other hematopoietic stem cell sources (88.9% vs. 47.7%; p = .05; CI = 95%). Overall, 15 patients died after HCT, most of them (n = 11) after the first year of transplant, due to non-hematological disease progression or complication of chronic GVHD.<BR><B>CONCLUSIONS: </B>Hematopoietic cell transplantation is a potentially curative treatment option for TBD, nonetheless the poor outcome reflects the progression of non-hematologic disease manifestations, which should be considered when transplantation is indicated.